Publications:

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SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.

Genes

Schipani, Angela A; Nannini, Margherita M; Astolfi, Annalisa A; Pantaleo, Maria A MA

Publication Date: 2023-03-04

Variant appearance in text: SDHA: 1534C>T; R512X

PubMed Link: 36980917

Variant Present in the following documents:

• Main text
• genes-14-00646.pdf

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Performances of Functional and Anatomic Imaging Modalities in Succinate Dehydrogenase A-Related Metastatic Pheochromocytoma and Paraganglioma.

Cancers

Patel, Mayank M; Jha, Abhishek A; Ling, Alexander A; Chen, Clara C CC; Millo, Corina C; Kuo, Mickey J M MJM; Nazari, Matthew A MA; Talvacchio, Sara S; Charles, Kailah K; Miettinen, Markku M; Del Rivero, Jaydira J; Chen, Alice P AP; Nilubol, Naris N; Lin, Frank I FI; Civelek, Ali Cahid AC; Taïeb, David D; Carrasquillo, Jorge A JA; Pacak, Karel K

Publication Date: 2022-08-11

Variant appearance in text: SDHA: 1534C>T; Arg512*

PubMed Link: 36010880

Variant Present in the following documents:

• Main text
• cancers-14-03886.pdf

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: SDHA: 1534C>T; R512*

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: SDHA: R512X; rs748089700

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.

European Journal Of Human Genetics : Ejhg

Whitworth, James J; Casey, Ruth T RT; Smith, Philip S PS; Giger, Olivier O; Martin, Jose Ezequiel JE; Clark, Graeme G; Cook, Jaqueline J; Fernando, Marlee S MS; Taniere, Phillipe P; , ; Maher, Eamonn R ER

Publication Date: 2021-07

Variant appearance in text: SDHA: 1534C>T; Arg512*

PubMed Link: 33854214

Variant Present in the following documents:

• Main text
• 41431_2021_Article_862.pdf

View BVdb publication page

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Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.

Jama

AlDubayan, Saud H SH; Conway, Jake R JR; Camp, Sabrina Y SY; Witkowski, Leora L; Kofman, Eric E; Reardon, Brendan B; Han, Seunghun S; Moore, Nicholas N; Elmarakeby, Haitham H; Salari, Keyan K; Choudhry, Hani H; Al-Rubaish, Abdullah M AM; Al-Sulaiman, Abdulsalam A AA; Al-Ali, Amein K AK; Taylor-Weiner, Amaro A; Van Allen, Eliezer M EM

Publication Date: 2020-11-17

Variant appearance in text: SDHA: Arg512Ter; rs748089700

PubMed Link: 33201204

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: SDHA: 1534C>T; R512*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 5
• 41467_2020_16067_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 6
• 41467_2020_16067_MOESM8_ESM.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SDHA: 1534C>T; Arg512*; rs748089700

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma.

Frontiers In Oncology

Jha, Abhishek A; de Luna, Kristine K; Balili, Charlene Ann CA; Millo, Corina C; Paraiso, Cecilia Angela CA; Ling, Alexander A; Gonzales, Melissa K MK; Viana, Bruna B; Alrezk, Rami R; Adams, Karen T KT; Tena, Isabel I; Chen, Alice A; Neuzil, Jiri J; Raygada, Margarita M; Kebebew, Electron E; Taieb, David D; O'Dorisio, M Sue MS; O'Dorisio, Thomas T; Civelek, Ali Cahid AC; Stratakis, Constantine A CA; Mercado-Asis, Leilani L; Pacak, Karel K

Publication Date: 2019

Variant appearance in text: SDHA: 1534C>T; Arg512*

PubMed Link: 30854332

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

Molecular Genetics & Genomic Medicine

Nicolas, Emmanuelle E; Demidova, Elena V EV; Iqbal, Waleed W; Serebriiskii, Ilya G IG; Vlasenkova, Ramilia R; Ghatalia, Pooja P; Zhou, Yan Y; Rainey, Kim K; Forman, Andrea F AF; Dunbrack, Roland L RL; Golemis, Erica A EA; Hall, Michael J MJ; Daly, Mary B MB; Arora, Sanjeevani S

Publication Date: 2019-03

Variant appearance in text: SDHA: R512X

PubMed Link: 30680959

Variant Present in the following documents:

• MGG3-7-na.pdf
• MGG3-7-na-s007.xlsx, sheet 3

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Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

Journal Of The Endocrine Society

Maniam, Pavithran P; Zhou, Kaixin K; Lonergan, Mike M; Berg, Jonathan N JN; Goudie, David R DR; Newey, Paul J PJ

Publication Date: 2018-07-01

Variant appearance in text: SDHA: Arg512Ter

PubMed Link: 29978154

Variant Present in the following documents:

• Main text
• js.2018-00120.pdf

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: SDHA: R512X

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: SDHA: R512X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 10

View BVdb publication page

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Succinate dehydrogenase deficiency in a PDGFRA mutated GIST.

Bmc Cancer

Belinsky, Martin G MG; Cai, Kathy Q KQ; Zhou, Yan Y; Luo, Biao B; Pei, Jianming J; Rink, Lori L; von Mehren, Margaret M

Publication Date: 2017-08-02

Variant appearance in text: SDHA: R512X

PubMed Link: 28768491

Variant Present in the following documents:

• Main text

View BVdb publication page

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: SDHA: 1534C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

View BVdb publication page

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SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Molecular Genetics & Genomic Medicine

Casey, Ruth T RT; Ascher, David B DB; Rattenberry, Eleanor E; Izatt, Louise L; Andrews, Katrina A KA; Simpson, Helen L HL; Challis, Benjamen B; Park, Soo-Mi SM; Bulusu, Venkata R VR; Lalloo, Fiona F; Pires, Douglas E V DEV; West, Hannah H; Clark, Graeme R GR; Smith, Philip S PS; Whitworth, James J; Papathomas, Thomas G TG; Taniere, Phillipe P; Savisaar, Rosina R; Hurst, Laurence D LD; Woodward, Emma R ER; Maher, Eamonn R ER

Publication Date: 2017-05

Variant appearance in text: SDHA: 1534C>T; Arg512*

PubMed Link: 28546994

Variant Present in the following documents:

• Main text
• MGG3-5-237.pdf

View BVdb publication page

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: SDHA: 1534C>T; Arg512Ter

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-3.xlsx, sheet 1

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: SDHA: R512*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table7.xlsx, sheet 1

View BVdb publication page

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15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

Endocrine-Related Cancer

Benn, Diana E DE; Robinson, Bruce G BG; Clifton-Bligh, Roderick J RJ

Publication Date: 2015-08

Variant appearance in text: SDHA: R512*

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SDHA: R512X

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

The International Journal Of Biochemistry & Cell Biology

Miettinen, Markku M; Lasota, Jerzy J

Publication Date: 2014-08

Variant appearance in text: SDHA: 1534C>T; R512*

PubMed Link: 24886695

Variant Present in the following documents:

• Main text

View BVdb publication page

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